| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 746,467 | A→C | Q178P (CAG→CCG) | nei → | endonuclease VIII and 5‑formyluracil/5‑hydroxymethyluracil DNA glycosylase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 746,467 | 0 | A | C | 98.4% | 217.6 / NA | 64 | Q178P (CAG→CCG) | nei | endonuclease VIII and 5‑formyluracil/5‑hydroxymethyluracil DNA glycosylase |
| Reads supporting (aligned to +/- strand): ref base A (0/0); major base C (35/28); minor base T (0/1); total (35/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.53e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCAGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGGCGCTGTTT > NC_000913_3_hsa_tpiA/746333‑746612 | gAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTgg > 2:260843/1‑150 (MQ=255) gACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAAATCCTCTGGCCGGTTGGGTTGACAGGAAATCa > 2:189546/1‑150 (MQ=255) gCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGACTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATaa > 2:577206/1‑150 (MQ=255) ggAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGGGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGc > 1:293169/1‑150 (MQ=255) aGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGa > 1:503586/1‑150 (MQ=255) tgAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAACGCGAAAGAtt > 1:72116/1‑149 (MQ=255) aGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGTGTTGACTGGAAATCATAAAACGCAAGAGCTCaa > 1:582167/1‑150 (MQ=255) gAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAAt > 1:258257/1‑150 (MQ=255) aaCGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttggg < 1:566545/116‑1 (MQ=255) aaCGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttggg > 2:566545/1‑116 (MQ=255) gATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGTAAATCATAAAGCGAAAGATCTCAATgcgg < 1:161217/150‑1 (MQ=255) attattGTCGCCGCGCTTTCGTACCCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTATGGCTGGGCTTGGCGATTATTTGCGGGTGGAGACCATCTGGCCGGTTGGGTTGAATGGAGATAATCAAGCGAAGGAGCGCAATgcgag > 2:204537/1‑148 (MQ=255) attGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCa > 1:94032/1‑150 (MQ=255) cgccgcGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTgg < 1:260843/150‑1 (MQ=255) ccgcGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGAt > 1:616720/1‑150 (MQ=255) cgcgCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGATAGATCTCAATgcgg > 1:652498/1‑138 (MQ=255) cgcgCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATgcgg < 2:652498/138‑1 (MQ=255) cgcTTTCGTAACCGTCAGTTTGCTGGAGTACTGCTCGATCAGGCGTTTCTGGCTGTGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCa < 2:503586/150‑1 (MQ=255) tttCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTc < 1:17129/150‑1 (MQ=255) ttCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCg < 2:293169/150‑1 (MQ=255) cGTAACCGGCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGca < 1:150193/150‑1 (MQ=255) ccGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACAcgc < 1:379026/150‑1 (MQ=255) ccGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGCGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACAcgc > 1:544748/1‑150 (MQ=255) cGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCGTAAAGCGAAAGATCTCAATGCGGCGCCACTGGATGGACTCGCACAcgcg > 1:114125/1‑150 (MQ=255) gTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGt > 2:407629/1‑150 (MQ=255) gTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCCCACACGCGt > 2:51437/1‑150 (MQ=255) gTCAGTTTGCTGGAGTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGt < 1:630573/150‑1 (MQ=255) tCAGTTTGCTGGACTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGTGGCGCAACTGGATGCACTCGCACACGCGtt > 1:544356/1‑150 (MQ=255) tttGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTg < 2:445094/150‑1 (MQ=255) tgcgagATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGCCAATTATTTGCCGGTGGAGATCCTCTGGACGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGga < 1:635336/145‑1 (MQ=255) cTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttg < 1:612219/75‑1 (MQ=255) cTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCggttg > 2:612219/1‑75 (MQ=255) tGGATTACTGCTCAATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTCCGGGTGGAGATCCTCTGGCCGGTTGGGTTGCCTAGAAATCATAAAGCGAAAGATATCAATGCGGCGCAACTGGATGCACTCGCACCCGCATTACTGGAGAt > 2:257231/1‑150 (MQ=255) tGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCaa < 1:655771/100‑1 (MQ=255) tGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCaa > 2:655771/1‑100 (MQ=255) gCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGCGCTTCCTCGagg < 2:641568/150‑3 (MQ=255) cTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTTTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGAttt > 1:438196/1‑150 (MQ=255) cTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGga < 1:83511/137‑1 (MQ=255) cTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGga > 2:83511/1‑137 (MQ=255) cGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCAAACGCGTTACTGGAGATTCCTCGATTTTc > 2:494054/1‑150 (MQ=255) tCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCcta > 2:599190/1‑150 (MQ=255) tCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCcta > 1:182780/1‑150 (MQ=255) gTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCAt < 2:661413/70‑1 (MQ=255) gTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCAt > 1:661413/1‑70 (MQ=255) tcctggctggGCTTGGAAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAAATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCtacgctacgc < 2:496206/148‑1 (MQ=255) ctggctggGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCgg < 2:94032/150‑1 (MQ=255) gctggGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCggggg > 1:489255/1‑150 (MQ=255) gggggTTGGGAATTATTTGCGGGTGGAGATTCTCTGGTCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGTTGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCa < 2:202748/149‑1 (MQ=255) gggCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAg < 1:386175/150‑1 (MQ=255) ggCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACCCGTTACTGGAGCTTCCTCCATTTTCCTACGCTACCCGGGGGCAgg > 2:377494/1‑150 (MQ=255) gCTTGGCGATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGt < 1:440174/150‑1 (MQ=255) ggCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATgcg > 2:517759/1‑75 (MQ=255) ggCAATTATTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATgcg < 1:517759/75‑1 (MQ=255) cAATTAGTTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATga < 1:377494/150‑1 (MQ=255) tattTGCGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAAt > 2:511363/1‑150 (MQ=255) tGCGGGTGGAGATCCTCGGGCTGGTTGGGTGGACAGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTCACTGGAGATGCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGc < 2:582167/150‑1 (MQ=255) cGGGTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGcat < 1:577206/150‑1 (MQ=255) gggTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTc > 2:608586/1‑112 (MQ=255) gggTGGAGATCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTc < 1:608586/112‑1 (MQ=255) tggctaTCCTCTGGCCGTGTTGGTTATCTGTAAATCCTAATTCGACAGATCTCAACGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGCCAGGTGGATGAGAATAAGCATCATg < 1:430715/145‑1 (MQ=255) aTCCTCTGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGGTTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGgcg > 1:335078/1‑150 (MQ=255) tctGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCt > 1:457096/1‑92 (MQ=255) tctGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCt < 2:457096/92‑1 (MQ=255) tGGCCGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCAATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGGCGCTGgtt > 1:450293/1‑150 (MQ=255) | GAATCTGACGCCGGAGGTGGTGAAAGAACGATTATTGTCGCCGCGCTTTCGTAACCGTCAGTTTGCTGGATTACTGCTCGATCAGGCGTTTCTGGCTGGGCTTGGCAATTATTTGCGGGTGGAGATCCTCTGGCAGGTTGGGTTGACTGGAAATCATAAAGCGAAAGATCTCAATGCGGCGCAACTGGATGCACTCGCACACGCGTTACTGGAGATTCCTCGATTTTCCTACGCTACGCGGGGGCAGGTGGATGAGAATAAGCATCATGGGGCGCTGTTT > NC_000913_3_hsa_tpiA/746333‑746612 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |